Figure 2.
The columns represent individual cases identified by unique patient numbers (UPN). The rows categorize various diagnostic evaluations, affected genes, clinical variables, interventions, and outcomes. The table is divided into three sections: SCID (n equals 15), XLA and other agammaglobulinemias (n equals 16), and sTCL (n equals 9). Each section lists specific diagnoses, affected genes, presence of trisomy 21, TREC/KREC levels, clinical variables, interventions such as IGRT, ERT, HCT, and outcomes. Key trends include the distribution of different diagnoses, affected genes, and the various interventions and outcomes for each case.
Summary of 40 infants with IEIs identified by TREC/KREC-based NBS. Each column represents a confirmed case with clinical characteristics and interventions. ERT, enzyme replacement therapy; NA, not available. GA, gestational age; cDGS, complete DiGeorge syndrome; LCH, Langerhans cell histiocytosis; aGVHD, acute graft-versus-host disease; cGVHD, chronic graft-versus-host disease; UR-BMT, unrelated donor bone marrow transplantation; UR-CBT, unrelated donor cord blood transplantation; UR-PBSCT, unrelated donor peripheral blood stem cell transplantation.